Abstract
Presently, there is no conclusive test to detect heterocygocity in CAH. We investigated the increase of 17-OH-Progesterone (17 OH-P) within one hour after intravenous ACTH stimulation with SYNACTHEN and the quotient increase of 17-OH-Progesterone: Increase of Cortisol in 1; normals, 30 heterocygotes, i.e. parents of CAH children and 34 CAH patients witli specific radioimmunassays.
The mean increase of 17-OH-P is 151 ng/100 ml in normals, 450 ng/100 ml in heterocygotes and 11 100 ng/ml in CAH children. Statistically the three mean values are different on the P < 0,001 level. Only is out of 30 heterocygotes are higher than the highest normal value.
The mean values of the quotient increase of 17-OH-P: increase of cortisol of normals and heterocygotes are also statistically different on the P < 0,001 level. 22 out of 30 values of heterocygotes are higher than the highest value of normals. Thus for the present we are able to distinguish about 74% of heterocygotes from the normals.
Supported by Deutsche Forschungsgemeinschaft SFB 51/C
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Knorr, D., Didlingmaier, P., Butenandt, O. et al. A TEST FOR HETEROCYGOCITY IN CONGENITAL ADRENAL HYPERPLASIA (CAH). Pediatr Res 9, 681 (1975). https://doi.org/10.1203/00006450-197508000-00084
Issue Date:
DOI: https://doi.org/10.1203/00006450-197508000-00084
This article is cited by
-
Serum 21-deoxycortisol and 17-hydroxypregnenolone in parents of patients with congenital adrenal hyperplasia
Journal of Endocrinological Investigation (1980)
-
Genetic linkage studies between congenital adrenal hyperplasia and the HLA blood group system
Immunogenetics (1979)